Case Of Jarcho-Levin Syndrome Research Articles

Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management

BackgroundJarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pakistani family that presented with respiratory distress secondary to the condition.Case presentationThe case is a full-term girl that had a webbed neck with an undefined chest deformity. Radiology showed kyphoscoliosis and a crablike chest. Early identification of these high morbidity conditions is key to allow for optimal treatment and improved outcomes.ConclusionsWe have provided a brief breakdown of the management principles of the condition and more than 80 years after the first case of Jarcho-Levin syndrome was reported, we present the diagnostic criterion for JLS.

COVID-19 in a case of Jarcho Levin syndrome

Jarcho-Levin syndrome (JLS) also called spondylothoracic dysostosis is a rare congenital disorder. It is characterized by short stature with multiple abnormalities in the rib cage and vertebrae. The vertebrocoastal anomalies make the thoracic cage incapable of accommodating the growing lung. This in turn leads to thoracic insufficiency, severe cardio-respiratory complications, and frequent chest infections. We present the case of a 1-year-old baby girl who presented with symptoms of acute respiratory tract infection and was diagnosed with The novel Coronavirus Dis¬ease-2019 (COVID-19) by a positive rapid antigen test. During workup, she was also diagnosed to be a case of JLS with help of a skeletal survey. The baby died shortly after.

A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome.

Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho-Levin syndrome and that each of these abnormalities is a component of Jarcho-Levin syndrome.

Jarcho Levin Syndrome and Renal Abnormalities

Jarcho Levin syndrome is a rare genetic disorder characterized by malformations of the vertebrae at different levels of the spine and ribs. We present a case of Jarcho Levin Syndrome diagnosed prenatally and was associated with renal abnormalities. Bahrain Med Bull 2014; 36(2): 108-111

Jarcho-Levin syndrome with diastematomyelia : A case report and review of literature

Jarcho–Levin syndrome (JLS) is a type of segmental costovertebral malformation. It is a congenital disorder characterized by a variety of vertebral and costal anomalies. Only four cases of Jarcho–Levin syndrome with diastematomyelia have been reported in the literature. We report the fifth case of Jarcho–Levin syndrome with diastematomyelia and review the literature. A one-and-half-year-old male child born of full-term normal delivery was brought with complaints of progressively increasing weakness in lower limbs with inability to stand since 1 month. Radiological examination revealed irregular fusion of ribs, spina bifida, and diastematomyelia at L2–L3 vertebral level. The patient underwent L1 to L3 laminectomy. A large bony spur was identified and excised with microrongeurs. Spondylocostal dysplasia may be associated with diastematomyelia or other surgically correctable occult intraspinal anomalies which may be diagnosed in early asymptomatic stage by magnetic resonance image screening of spine.

A CASE OF JARCHO-LEVIN SYNDROME ASSOCIATED WITH BILATERAL CYSTIC RENAL DISEASE AND WILMS TUMOR: MR Imaging Findings

Jarcho-Levin syndrome (JLS) is a congenital disorder characterized by a variety of vertebral and costal anomalies that result in thoracic deformity. Hitherto, a plethora of associated anomalies have been described in several reports. In this report, the authors describe a case of JLS who has Wilms tumor and bilateral cystic renal disease. To the authors’ knowledge, there is only a single case of JLS who presented with multiple renal cortical cysts, but none with an associated Wilms tumor in the literature. Additional anomalies seen in the present case that are related with this syndrome are also discussed.

Jarcho‐Levin syndrome: Unusual survival in a classical case

Spondylothoracic dysostosis, or Jarcho-Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short-neck, short-trunk dwarfism and multiple vertebral anomalies at all levels of the vertebral column. The latter include hemivertebrae, fused, hypoplastic, and "butterfly" vertebrae. In most cases of Jarcho-Levin syndrome, the small size of the thorax causes respiratory death in infancy. This report of a Puerto Rican child with spondylothoracic dysostosis and unusually long survival to 11 years exemplifies the nosologic and prognostic difficulties associated with this syndrome.